Ginjaar IB - Search Results

1

Local dystrophin restoration with antisense oligonucleotide PRO051.

van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJ. van Deutekom JC, et al. Among authors: ginjaar ib. N Engl J Med. 2007 Dec 27;357(26):2677-86. doi: 10.1056/NEJMoa073108. N Engl J Med. 2007. PMID: 18160687 Free article. Clinical Trial.

2

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT. Aartsma-Rus A, et al. Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Hum Mutat. 2009. PMID: 19156838 Review.

3

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.

van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ. van Deutekom JC, et al. Among authors: ginjaar ib. Hum Mol Genet. 2001 Jul 15;10(15):1547-54. doi: 10.1093/hmg/10.15.1547. Hum Mol Genet. 2001. PMID: 11468272

4

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Among authors: ginjaar ib. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

5

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.

Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB. Almomani R, et al. Among authors: ginjaar ib. Neuromuscul Disord. 2009 Jun;19(6):383-90. doi: 10.1016/j.nmd.2009.03.004. Epub 2009 May 5. Neuromuscul Disord. 2009. PMID: 19409785

6

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM. Aartsma-Rus A, et al. Among authors: ginjaar ib. Eur J Hum Genet. 2010 Aug;18(8):889-94. doi: 10.1038/ejhg.2010.4. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145676 Free PMC article.

7

The importance of genetic diagnosis for Duchenne muscular dystrophy.

Aartsma-Rus A, Ginjaar IB, Bushby K. Aartsma-Rus A, et al. Among authors: ginjaar ib. J Med Genet. 2016 Mar;53(3):145-51. doi: 10.1136/jmedgenet-2015-103387. Epub 2016 Jan 11. J Med Genet. 2016. PMID: 26754139 Free PMC article. Review.

8

Detection of truncated dystrophin in fetal DMD myotubes.

Ginjaar IB, Bakker E, den Dunnen JT, Wessels A, van Paassen MM, Kloosterman MD, Zubrzycka-Gaarn EE, Fischbeck KH, Moorman AF, van Ommen GJ. Ginjaar IB, et al. Adv Exp Med Biol. 1990;280:17-23. doi: 10.1007/978-1-4684-5865-7_4. Adv Exp Med Biol. 1990. PMID: 2248137

9

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

Roest PA, Bout M, van der Tuijn AC, Ginjaar IB, Bakker E, Hogervorst FB, van Ommen GJ, den Dunnen JT. Roest PA, et al. Among authors: ginjaar ib. J Med Genet. 1996 Nov;33(11):935-9. doi: 10.1136/jmg.33.11.935. J Med Genet. 1996. PMID: 8950674 Free PMC article.

10

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.

Ginjaar IB, Kneppers AL, v d Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JC, Weegenaar J, den Dunnen JT, Bakker E. Ginjaar IB, et al. Eur J Hum Genet. 2000 Oct;8(10):793-6. doi: 10.1038/sj.ejhg.5200535. Eur J Hum Genet. 2000. PMID: 11039581

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